teen
English

A research team from Padua offers guidelines for diagnosis and treatment of Turner syndrome

31.05.2024

Published in Expert Review of Endocrinology & Metabolism by a research team from Padua, the article Transition from pediatrics to adult health care in girls with Turner syndrome offers guidelines encouraging a proactive, multidisciplinary approach between patients and healthcare providers during adolescence for those with Turner syndrome.

Turner syndrome is a rare condition that only affects females (one out of 2500 births), caused by the complete or partial loss of one X chromosome, leading to a wide spectrum of clinical manifestations characterized by short stature, gonadal dysgenesis, cardiovascular malformations, and dysmorphic features. As pediatricians manage complications associated with the syndrome, such as growth and cardiovascular assessment, the transition to health care is of utmost importance. Adolescence is the ideal time to encourage the development of independent self-care behaviors and to make the growing girl aware of her health, thus promoting healthy lifestyle behaviors. During adulthood, diet and exercise are of utmost importance to manage some of the common complications that can emerge with aging. All clinicians involved in the multidisciplinary team must consider that transition is more than hormone replacement therapy. The transition to a modern Healthcare Provider is a proactive process, shared between pediatric and adult endocrinologists.

Prof Filippo Ceccato of the UOC of Endocrinology Department of Medicine at the University of Padua explains, “Our study highlights the clinical importance of planning the transition from pediatric to adult care by the multidisciplinary group of physicians involved in treating girls with Turner syndrome. Patients must be at the center of this transition that involves a pediatrician, endocrinologist, geneticist, gynecological experts in fertility, and other specialists. The guidelines developed by the team in Padua offer the ideal path of diagnosis and control over time to rationalize the treatment of this disease based on the experience acquired by various specialists."

The Endocrinology Department of the University of Padua Hospital is the first center in the European network for the treatment of rare diseases. The invitation to develop organizational models for approaching diseases to encourage a virtuous path that gives patients the best possible care comes from Europe itself.